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18/03/2019

Pituitary Dwarfism Syndrome

Maryam + Yousef

What is pituitary dwarfism syndrome?

pituitary dwarfism syndrome occurs when the pituitary gland doesn't create enough growth hormone.

General

Disorder

History

history behind Disorder

When: 1963

Who: Pierre Maroteaux devoted himself to medical genetics and became director of research at the National Centre of Scientific Research. He discovered the disease was coming from genetics.

Where: France

where is pituitary dwarfism common

Where is this disease common?

  • estaimated 14,000 in every 27,000 children born have a form of dwarfism
  • in 2004, 20,000 children were getting supplemental GH therapy. 1/4 of them had a trace of dwarfism
  • pituitary dwarfism isnt found in a particular ethincity
  • found more in males than females

Signs & Symptoms

Signs

  • adults under 4'10
  • growth rate slower than expected for age
  • delayed or non sexual deveopment during teen years
  • arent as noticable in children until they get older

Pituiatry dwarf signs are not like regular dwarfs signs

Signs & Symptoms

Symptoms

  • neurologic problems
  • hydrocephalus (water in the brain)
  • susceotiable to hearing loss, weight gain, ear infection, scoliosis, joint and back pain

To relief some of these symptoms seek medical care

Genetics Of Pityitary dwarfism Syndrome

Genetics of the Disease

Location of the gene

  • scientists are not 100% sure on how pituitary dwarfism is caused
  • they do believe though that it is due to abnormality in the 3rd and 7th chromosomes

Location Of Gene

Karyotype Comparision

Karyotype comparision

Inherited Or Spontaneous

Inheritated Or Spontaneous

  • Pituitary dwarfism is inherited most of the time
  • can also be spontaneous

Ex; similar to diabetes

  • sometimes pituitary dwarfism can be inherited in abnormal ways too

Genetic mutations that can cause dwarfism

  • nervous system tumor
  • nervous system trauma
  • leukemia
  • genetics

Genetic mutations that cause dwarfism

Pedigree

Pedigree

Is It Dominant Or Recessive ?

Dominant Or Recessive Gene

  • Pituitary dwarfism syndrome is autosomal x-linked recessive gene
  • both parents must carry the gene

Punett square

Punnett Square

Medical diagnosis & Treatment

Medical Diagnosis & Treatment

How is the disorder diagnosed?

How is the disorder diagnosed?

  • The first diagnosis would be made by observing physical characteristics.
  • Close monitoring and doctors is necessary to record the constellation of symptoms for each unique case of dwarfism.

What type of tests can be done to identify the disease?

  • MRI and CT scans are done to look for any spinal and other structural abnormalities before serious complications arise.

  • Imaging techniques are used to determine the type of dwarfism.

What type of tests can be done to identify the disease?

What Is The Likely outcome for people with this disease?

Prognosis?

  • Chromosomal abnormalities such as; pituitary gland disorders, problems with absorption, malnutrition, kidney disease, and extreme emotional distress.
  • A child with dwarfism will have delayed gross motor development and skills such as; breathing ear infections, hearing loss, weight problems, curvature of the spine , bowed legs, stiff arms, joint and back pain, sleep apnea and the list goes on

Adult Life

Adult Height

  • At a full grown adult they could reach to 42-52 inches
  • Average life span would be 10 years less than a regular person

Medical Care

  • Seeking medical care constantly is very important with dwarfism to not only relieve some of these symptoms but also so the doctor can keep an eye on any incoming problems

Possible Treatments

Possible treatments for those with the condition?

  • Some forms of dwarfism can be treated through surgical or medical procedures
  • Some of these procedures would be
  • Bone lengthening procedures
  • Reconstructive surgery
  • Growth and sex hormone replacements
  • All dwarfs have many different conditions and their own set of characteristics and complications. Luckily, many of these complications are treatable so that they can live healthy, active lives.

Cure For Dwarfism?

Is there currently a cure for people who have this disorder?

  • Other than what is stated in the slide before, No there is not a full cure for dwarfism.
  • There are ways to help treat it, but no full cure.

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